TGFBR2 and Marfan syndrome: The initial dominating idea of the pathology of MFS was the decreased TGFβ signaling as demonstrated by the study of Mizuguchi et al., which elucidates the pathogenic mechanism by which heterozygous mutations in the TGFBR2 gene, mainly in the STK domain and affecting highly conserved amino acids, lead to MFS through dysregulated TGFβ signaling (Mizuguchi et al., 2004).